A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575



Internal ID15203904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2226475..2270617hg38UCSC Ensembl
Outerchr12:2335641..2379783hg19UCSC Ensembl
Outerchr12:2205902..2250044hg18UCSC Ensembl
Outerchr12:2205902..2250044hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387883
hg197883
hg187883
hg177883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1975, nssv10898, nssv5392, nssv10848, nssv1054, nssv6486, nssv4004
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesCACNA1C, CACNA1C-IT3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv575
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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